NM_001322917.1(ZNF567):c.1598A>G (p.Tyr533Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004117063.1

Allele description [Variation Report for NM_001322917.1(ZNF567):c.1598A>G (p.Tyr533Cys)]

NM_001322917.1(ZNF567):c.1598A>G (p.Tyr533Cys)

Gene:

ZNF567:zinc finger protein 567 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_001322917.1(ZNF567):c.1598A>G (p.Tyr533Cys)

HGVS:

NC_000019.10:g.36720322A>G
NM_001300979.2:c.1598A>G
NM_001322911.2:c.1505A>G
NM_001322912.1:c.1505A>G
NM_001322913.1:c.1598A>G
NM_001322914.1:c.1598A>G
NM_001322915.1:c.1598A>G
NM_001322916.1:c.1598A>G
NM_001322917.1:c.1598A>GMANE SELECT
NM_001322918.1:c.1598A>G
NM_001322919.1:c.1598A>G
NM_001322920.1:c.1598A>G
NM_001363651.3:c.1505A>G
NM_001387759.1:c.1667A>G
NM_001387760.1:c.1598A>G
NM_001387761.1:c.1598A>G
NM_001387762.1:c.1598A>G
NM_001387763.1:c.1598A>G
NM_001387764.1:c.1598A>G
NM_001387765.1:c.1598A>G
NM_001387766.1:c.1598A>G
NM_001387767.1:c.1598A>G
NM_001387768.1:c.1598A>G
NM_001387769.1:c.1598A>G
NM_001387770.1:c.1598A>G
NM_001387771.1:c.1598A>G
NM_001387772.1:c.1574A>G
NM_001387773.1:c.1505A>G
NM_152603.5:c.1505A>G
NP_001287908.1:p.Tyr533Cys
NP_001309840.1:p.Tyr502Cys
NP_001309841.1:p.Tyr502Cys
NP_001309842.1:p.Tyr533Cys
NP_001309843.1:p.Tyr533Cys
NP_001309844.1:p.Tyr533Cys
NP_001309845.1:p.Tyr533Cys
NP_001309846.1:p.Tyr533Cys
NP_001309847.1:p.Tyr533Cys
NP_001309848.1:p.Tyr533Cys
NP_001309849.1:p.Tyr533Cys
NP_001350580.1:p.Tyr502Cys
NP_001374688.1:p.Tyr556Cys
NP_001374689.1:p.Tyr533Cys
NP_001374690.1:p.Tyr533Cys
NP_001374691.1:p.Tyr533Cys
NP_001374692.1:p.Tyr533Cys
NP_001374693.1:p.Tyr533Cys
NP_001374694.1:p.Tyr533Cys
NP_001374695.1:p.Tyr533Cys
NP_001374696.1:p.Tyr533Cys
NP_001374697.1:p.Tyr533Cys
NP_001374698.1:p.Tyr533Cys
NP_001374699.1:p.Tyr533Cys
NP_001374700.1:p.Tyr533Cys
NP_001374701.1:p.Tyr525Cys
NP_001374702.1:p.Tyr502Cys
NP_689816.2:p.Tyr502Cys
NC_000019.9:g.37211224A>G
NM_152603.2:c.1505A>G

Protein change:

Y502C

Molecular consequence:

NM_001300979.2:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322911.2:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322912.1:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322913.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322914.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322915.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322916.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322917.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322918.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322919.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001322920.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363651.3:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387759.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387760.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387761.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387762.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387763.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387764.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387765.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387766.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387767.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387768.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387769.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387770.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387771.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387772.1:c.1574A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387773.1:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152603.5:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003596070	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003596070

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 14, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003596070.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1505A>G (p.Y502C) alteration is located in exon 4 (coding exon 3) of the ZNF567 gene. This alteration results from a A to G substitution at nucleotide position 1505, causing the tyrosine (Y) at amino acid position 502 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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